先天性心脏病家族聚集的初步分析

Primary analysis of family aggregation of congenital heart disease

目的 :对重庆地区先天性心脏病 (先心病 )的家系进行筛查 ,以探讨先心病家系的遗传模式。方法 :在群体调查中收集重庆地区先心病资料 ,对一个家系中有 2例及 2例以上先心病患者的高发家系绘制家系谱图 ,对先证者及其一、二和三级亲属成员逐个筛查 ,填写个案调查表 ,对高发家系进行分析。结果 :调查了 4 387个家系中有 2 1个高发家系 ,均无三级亲属 ,其中亲属患者的病种与先证者不完全一致 ,符合率为 33.33% (7/ 2 1)。先心病先证者的亲属患病率分别是一级亲属为 16 .4 9% (16 / 97) ,二级亲属为 1.89% (5 / 2 6 5 ) ,一、二级亲属患病率比较 ,差异有统计学意义 (χ2 =2 7.73,P <0 .0 1)。采用EmeryAEH分离分析法对高发先心病的遗传方式进行分析 ,结果符合常染色体单基因显性遗传 ,但同胞数不符合自然状态 ,故不能肯定其常染色体显性遗传方式 ;常染色体隐性遗传因剩下的家系样本太少 ,难以预测 ;而性连锁遗传中 ,Y连锁伴性遗传和X连锁遗传 ,与实际调查不符 ,可排除这种遗传方式。结论 :重庆地区先心病家系调查尚未发现地区差别 ,但有家族聚集现象 ,其亲属发病率高低与血缘关系近远相关 ,与先证者血缘关系越近的亲属患病率越高 ;同时 ,由于调查在独生子女或双胞胎中进行 ,不符合自然状态 ,为遗传流行病学?

Objective:To investigate the family history of congenital heart disease (CHD) in Chongqing for studying the genetic models in CHD families. Method:The materials of families with more than one CHD patients were collected in the survey, from which maping pedigrees for high-risk families, and analyses of high-risk family were done. The proband as well as the first and second degree relatives filled in a questionaire, the were analyzed. Result: Among 4 387 families in the survey, there were 21 high-risk families in which the disease types among the relative patients were inconsistent with those among the probands, the coincidence is 33.33%(7/21). The prevalence of the first and second degree relatives were 16.49% (16/78), 1.89% (5/265) respectively and the difference was significant (χ 2= 27.73,P< 0.01). The inheritance pattern of high-risk CHD was analyzed by Emery AEH segregation analysis. The result was in accordance whith autosomal dominane monogenic inheritance (AD), But the number of sibling was not in the natural state so it was not in; Autosomal recessive inheritance was difficult to be evaluated because of few families remained. Y-linked inheritance mode was not in accordance with the actual investigation, thus sex-linked inheritance can be rejected.Conclusion: The CHD family investigation in Chongqing region doesn't show the regional difference but shows family aggregation. The prevalence of the related is related to the extent of the consanguinity. The higher the extent of the relation to the proband, the higher the prevalence. At the same time, because our investigation were undertaken in the state of single child or twins which are not in accordance with the natural state, it brings new problems to genetic epidemiology and new methods for clinic application are needed.